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Journal of the American Academy of Dermatology
Volume 71, n° 6
pages 1250-1255 (décembre 2014)
Doi : 10.1016/j.jaad.2014.07.012
Dermatology Grand Rounds at the NIH

New facial papules in a 66-year-old woman with bladder cancer
 

Radhika N. Nakrani, BS a, Arunima Ghosh, MBBS, PhD b, Chyi-Chia Richard Lee, MD, PhD b, Piyush K. Agarwal, MD c, Andrea B. Apolo, MD d, Edward W. Cowen, MD, MHSc a,
a Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 
b Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 
c Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 
d Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 

Correspondence to: Edward W. Cowen, MD, MHSc, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bldg 10/Room 12N238, 10 Center Dr, MSC 1908, Bethesda, MD 20892-1908.
Key teaching points

• Muir-Torre Syndrome (MTS) is an autosomal dominant cancer syndrome that results from a mutation in mismatch repair genes. It is characterized by sebaceous neoplasms, keratoacanthomas, and visceral neoplasm(s) affecting the colon, uterus, ovaries, bladder, or other organs.

• Mismatch repair immunohistochemistry and microsatellite instability testing of sebaceous neoplasms are available to confirm a diagnosis of MTS.

• Early recognition of cutaneous features of MTS could lead to early diagnosis and prevention of advanced neoplasms in patients and family members.

The full text of this article is available in PDF format.

Key words : colon cancer, endometrial cancer, hereditary cancer, Lynch syndrome, microsatellite instability, mismatch repair, MutS homolog 2, MutS homolog 6, sebaceous epithelioma, sebaceous neoplasm, urothelial cancer

Abbreviations used : BerEP4, CK, EMA, MMR, MSH2, MSI, MTS, TTF



 This research was supported by the Intramural Program of National Institutes of Health (NIH), Center for Cancer Research, National Cancer Institute, and the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the National Institutes of Health and generous contributions to the Foundation for the NIH from Pfizer Inc, the Doris Duke Charitable Foundation, the Alexandria Real Estate Equities Inc and Mr and Mrs Joel S. Marcus, and the Howard Hughes Medical Institute, as well as other private donors.
 Conflicts of interest: None declared.
 Reprints not available from the authors.



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